Bilateral congenital or childhood onset cataracts
Gene: PEX7
A more severe phenotype with microphthalmia and neurodevelopmental abnormalities may be assocaited with AR inheritance (Bidonost et al (2006) Invest. Ophthal. Vis. Sci. 47: 1274-1280.Created: 14 Jun 2016, 8:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1 and for Refsum Disease (include congenital cataract/cataract as a phenotype, respectively).Created: 29 Apr 2016, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease
Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease; Peroxisome biogenesis disorder to Peroxisome biogenesis disorder 9B, OMIM:614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease;Peroxisome biogenesis disorder
Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease
Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PEX7 was added to Cataractspanel. Sources: UKGTN